Anti-EFTUD2 antibody [EPR16055(B)]

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

EFTUD2 also known as SNR10 or U5-116KD is a core component of the spliceosome complex which is essential for RNA splicing. The protein has a mass of approximately 116 kDa. It shows important expression patterns in a range of tissues with particularly high levels in human embryonic tissues and adult brain. As part of the U5 snRNP component of the spliceosome it plays a fundamental role in the removal of introns from pre-mRNA a critical step in the maturation of messenger RNA.

Biological function summary

EFTUD2 participates in RNA processing activities that are necessary for accurate gene expression. This protein interacts with other components in the spliceosomal complex such as PRPF8 and SNRNP200 to facilitate the excision of introns and the ligation of exons. The precision in these activities ensures that transcription processes occur correctly and mutations in EFTUD2 can lead to mis-spliced mRNA and abnormal proteins disrupting normal cellular functions.

Pathways

EFTUD2 is an important participant in the mRNA splicing pathway an integral part of the gene expression pathway. The successful regulation of this splicing pathway is necessary for the proper synthesis of most eukaryotic proteins. EFTUD2 collaborates with proteins like SF3B1 and SYF2 to carry out efficient splicing ensuring the upkeep of normal cellular physiology and adaptive responses to environmental stimuli.

Associated diseases and disorders

EFTUD2 plays a role in mandibulofacial dysostosis with microcephaly (MFDM). Mutations in the EFTUD2 gene disturb normal splicing activity leading to the characteristic features observed in MFDM such as craniofacial abnormalities and intellectual disability. Additionally altered splicing profiles linked to EFTUD2 dysfunction correlate with cancer where spliceosome component mutations like those in SRSF2 and SF3B1 are frequent. These interactions underline the importance of EFTUD2 in both development and disease pathology.